Canonical Allele Identifier: CA2499224363
Community Standard Title: NC_000017.11:g.43057049_43057254del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057049_43057254del , CM000679.2:g.43057049_43057254del GRCh38
NC_000017.10:g.41209066_41209271del , CM000679.1:g.41209066_41209271del GRCh37
NC_000017.9:g.38462592_38462797del NCBI36
NG_005905.2:g.160730_160935del , LRG_292:g.160730_160935del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.5194-119_5277+3del , LRG_292t1:c.5194-119_5277+3del
NM_007294.4:c.5194-119_5277+3del
NM_007297.3:c.5053-119_5136+3del
NM_007297.4:c.5053-119_5136+3del
NM_007298.3:c.1882-119_1965+3del
NM_007299.3:c.1882-119_1965+3del
NM_007299.4:c.1882-119_1965+3del
NM_007300.3:c.5257-119_5340+3del
NM_007300.4:c.5257-119_5340+3del
NR_027676.1:n.5330-119_5413+3del
NR_027676.2:n.5371-119_5454+3del
ENST00000352993.7:c.1768-119_1851+3del
ENST00000357654.7:c.5194-119_5277+3del
ENST00000357654.9:c.5194-119_5277+3del
ENST00000461221.5:c.*4977-119_*5060+3del
ENST00000461574.2:c.5191-119_5274+3del
ENST00000468300.5:c.1882-119_1965+3del
ENST00000470026.6:c.5194-119_5277+3del
ENST00000471181.6:c.5257-119_5340+3del
ENST00000471181.7:c.5257-119_5340+3del
ENST00000473961.6:c.5068-119_5151+3del
ENST00000476777.6:c.5188-119_5271+3del
ENST00000477152.6:c.5116-119_5199+3del
ENST00000478531.6:c.1882-119_1965+3del
ENST00000484087.6:c.1756-119_1839+3del
ENST00000489037.2:c.5116-119_5199+3del
ENST00000491747.6:c.1882-119_1965+3del
ENST00000493795.5:c.5053-119_5136+3del
ENST00000493919.6:c.1744-119_1827+3del
ENST00000494123.6:c.5194-119_5277+3del
ENST00000497488.2:c.4306-119_4389+3del
ENST00000586385.5:c.124-119_207+3del
ENST00000591534.5:c.667-119_750+3del
ENST00000591849.5:c.-98-7064_-98-6859del ENSP00000465347.1:n.-98-7064_-98-6859del
ENST00000618469.2:c.5194-119_5277+3del
ENST00000634433.2:c.5071-119_5154+3del
ENST00000644379.1:c.1581-119_1664+3del
ENST00000644379.2:c.5260-119_5343+3del
ENST00000644555.2:c.1744-119_1827+3del
ENST00000652672.2:c.5053-119_5136+3del